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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(P71L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A5
(R74fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Q76H)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G283fs)
Duplication
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G530D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(P535S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G624D)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
COL4A5
(G1170S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL4A5
(G1460fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
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